Incidental Mutation 'R0014:Rorc'
ID 64864
Institutional Source Beutler Lab
Gene Symbol Rorc
Ensembl Gene ENSMUSG00000028150
Gene Name RAR-related orphan receptor gamma
Synonyms Thor, RORgamma, thymus orphan receptor
MMRRC Submission 038309-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.865) question?
Stock # R0014 (G1)
Quality Score 112
Status Validated
Chromosome 3
Chromosomal Location 94280101-94305583 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 94284920 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000143610 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029795] [ENSMUST00000197040] [ENSMUST00000200009]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000029795
SMART Domains Protein: ENSMUSP00000029795
Gene: ENSMUSG00000028150

DomainStartEndE-ValueType
ZnF_C4 28 99 7.2e-37 SMART
low complexity region 116 133 N/A INTRINSIC
HOLI 320 474 3.78e-22 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107292
SMART Domains Protein: ENSMUSP00000102913
Gene: ENSMUSG00000028150

DomainStartEndE-ValueType
ZnF_C4 7 78 7.2e-37 SMART
low complexity region 95 112 N/A INTRINSIC
HOLI 299 453 3.78e-22 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000197040
SMART Domains Protein: ENSMUSP00000143763
Gene: ENSMUSG00000028150

DomainStartEndE-ValueType
ZnF_C4 7 78 7.2e-37 SMART
low complexity region 95 112 N/A INTRINSIC
HOLI 299 453 3.78e-22 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197971
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198793
Predicted Effect probably benign
Transcript: ENSMUST00000200009
SMART Domains Protein: ENSMUSP00000143610
Gene: ENSMUSG00000028150

DomainStartEndE-ValueType
ZnF_C4 13 84 7.2e-37 SMART
low complexity region 101 118 N/A INTRINSIC
PDB:3L0L|B 243 309 1e-22 PDB
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 95.8%
Validation Efficiency 100% (68/68)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a DNA-binding transcription factor and is a member of the NR1 subfamily of nuclear hormone receptors. The specific functions of this protein are not known; however, studies of a similar gene in mice have shown that this gene may be essential for lymphoid organogenesis and may play an important regulatory role in thymopoiesis. In addition, studies in mice suggest that the protein encoded by this gene may inhibit the expression of Fas ligand and IL2. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit lack of peripheral and mesenteric lymph nodes and Peyer's patches, reduced numbers of thymocytes, and increased apoptosis with loss of thymic expression of anti-apoptosic factor Bcl-xL. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1bg T A 15: 60,791,581 (GRCm39) D92V probably damaging Het
Ankrd52 C A 10: 128,222,321 (GRCm39) T583K probably benign Het
C3ar1 C T 6: 122,827,810 (GRCm39) V136M probably damaging Het
Capg A G 6: 72,538,026 (GRCm39) E304G possibly damaging Het
Ccdc125 A C 13: 100,820,846 (GRCm39) N189T possibly damaging Het
Ccr5 T C 9: 123,924,658 (GRCm39) F87S probably damaging Het
Cd2ap T C 17: 43,118,819 (GRCm39) S540G probably benign Het
Cdt1 C T 8: 123,299,305 (GRCm39) T529M probably benign Het
Cfap126 A G 1: 170,953,353 (GRCm39) D49G possibly damaging Het
Cngb3 T C 4: 19,396,685 (GRCm39) I346T probably benign Het
Degs1l T C 1: 180,882,696 (GRCm39) F153L possibly damaging Het
Dgkd A G 1: 87,809,603 (GRCm39) D97G probably damaging Het
Dgkg A T 16: 22,384,114 (GRCm39) probably null Het
Dmbx1 G T 4: 115,775,221 (GRCm39) T358K probably damaging Het
Dnai3 T C 3: 145,787,178 (GRCm39) probably null Het
Epc2 A T 2: 49,412,537 (GRCm39) K172* probably null Het
F2rl2 A T 13: 95,837,417 (GRCm39) N154I probably damaging Het
Fyttd1 G A 16: 32,725,924 (GRCm39) R175Q probably damaging Het
Gbp5 T A 3: 142,212,496 (GRCm39) C395S probably damaging Het
Gen1 T C 12: 11,291,642 (GRCm39) N716D probably benign Het
Helz2 A G 2: 180,882,304 (GRCm39) L163P probably damaging Het
Hmox2 T A 16: 4,582,897 (GRCm39) L210Q probably damaging Het
Klhl28 T C 12: 65,004,076 (GRCm39) T146A probably benign Het
Lrrk2 T C 15: 91,686,248 (GRCm39) probably benign Het
Man2c1 T A 9: 57,046,985 (GRCm39) M580K probably benign Het
Neb G A 2: 52,177,168 (GRCm39) A1391V probably damaging Het
Nyap2 T C 1: 81,219,666 (GRCm39) S563P probably damaging Het
Or2at4 T C 7: 99,385,256 (GRCm39) V302A probably damaging Het
Or4k51 A G 2: 111,585,119 (GRCm39) D175G probably damaging Het
Or55b3 A G 7: 102,126,684 (GRCm39) I131T probably damaging Het
P2rx5 T A 11: 73,057,888 (GRCm39) probably benign Het
Pclo C T 5: 14,730,465 (GRCm39) probably benign Het
Pex1 G A 5: 3,676,141 (GRCm39) probably benign Het
Polr2g A G 19: 8,771,016 (GRCm39) I160T probably damaging Het
Psma8 A G 18: 14,859,587 (GRCm39) I86V possibly damaging Het
Ptpdc1 G T 13: 48,740,395 (GRCm39) Y345* probably null Het
Rcbtb1 G T 14: 59,472,691 (GRCm39) K493N probably benign Het
Rexo2 A T 9: 48,385,747 (GRCm39) S126T probably benign Het
Slc7a2 T C 8: 41,364,065 (GRCm39) L426P probably damaging Het
Syde1 T C 10: 78,425,868 (GRCm39) T100A probably benign Het
Tbc1d20 A T 2: 152,153,701 (GRCm39) Q342L probably benign Het
Thbs1 A G 2: 117,943,831 (GRCm39) T150A possibly damaging Het
Trpm1 A G 7: 63,897,970 (GRCm39) H317R probably damaging Het
Tut1 T A 19: 8,939,811 (GRCm39) L265Q possibly damaging Het
Wdfy4 A G 14: 32,829,130 (GRCm39) F1029L possibly damaging Het
Wdr7 A G 18: 64,037,172 (GRCm39) T1199A probably benign Het
Zfp458 A G 13: 67,406,154 (GRCm39) V95A possibly damaging Het
Zscan18 A T 7: 12,503,344 (GRCm39) F738L possibly damaging Het
Other mutations in Rorc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01626:Rorc APN 3 94,296,094 (GRCm39) missense probably damaging 1.00
beto UTSW 3 94,284,915 (GRCm39) splice site probably null
brazil UTSW 3 94,296,826 (GRCm39) missense probably damaging 1.00
cashew UTSW 3 94,298,460 (GRCm39) missense probably damaging 1.00
chestnut UTSW 3 94,284,916 (GRCm39) splice site probably benign
macadamias UTSW 3 94,304,609 (GRCm39) nonsense probably null
macadamias2 UTSW 3 94,294,500 (GRCm39) missense probably damaging 1.00
R0115:Rorc UTSW 3 94,284,916 (GRCm39) splice site probably benign
R0365:Rorc UTSW 3 94,296,069 (GRCm39) missense probably damaging 1.00
R1470:Rorc UTSW 3 94,304,609 (GRCm39) nonsense probably null
R1470:Rorc UTSW 3 94,304,609 (GRCm39) nonsense probably null
R1914:Rorc UTSW 3 94,298,480 (GRCm39) missense probably damaging 1.00
R1915:Rorc UTSW 3 94,298,480 (GRCm39) missense probably damaging 1.00
R2142:Rorc UTSW 3 94,296,833 (GRCm39) missense probably benign 0.04
R2510:Rorc UTSW 3 94,296,427 (GRCm39) missense probably benign 0.30
R4135:Rorc UTSW 3 94,296,826 (GRCm39) missense probably damaging 1.00
R4181:Rorc UTSW 3 94,294,500 (GRCm39) missense probably damaging 1.00
R4574:Rorc UTSW 3 94,296,291 (GRCm39) missense probably benign 0.00
R4701:Rorc UTSW 3 94,299,017 (GRCm39) missense probably null 1.00
R5014:Rorc UTSW 3 94,298,460 (GRCm39) missense probably damaging 1.00
R5233:Rorc UTSW 3 94,304,632 (GRCm39) missense probably benign 0.26
R6758:Rorc UTSW 3 94,294,825 (GRCm39) missense possibly damaging 0.90
R7069:Rorc UTSW 3 94,280,214 (GRCm39) nonsense probably null
R7162:Rorc UTSW 3 94,284,915 (GRCm39) splice site probably null
R7169:Rorc UTSW 3 94,296,487 (GRCm39) missense probably benign 0.00
R7730:Rorc UTSW 3 94,300,421 (GRCm39) missense probably benign 0.43
R7922:Rorc UTSW 3 94,298,495 (GRCm39) missense probably damaging 0.98
R8365:Rorc UTSW 3 94,282,366 (GRCm39) missense probably benign 0.01
R9354:Rorc UTSW 3 94,280,170 (GRCm39) unclassified probably benign
X0063:Rorc UTSW 3 94,299,058 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TGCCTGTCATCATACCCAATGCAC -3'
(R):5'- ACCATTGCTGCCAAGGAAGCTG -3'

Sequencing Primer
(F):5'- TGTGGAGCAGAGCTTAAACCC -3'
(R):5'- CCAAGGAAGCTGCCAGG -3'
Posted On 2013-08-06